Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes

@article{Muramatsu2017ClinicalUO,
  title={Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes},
  author={Hideki Muramatsu and Yusuke Okuno and Kenichi Yoshida and Yuichi Shiraishi and Sayoko Doisaki and Atsushi Narita and Hirotoshi Sakaguchi and Nozomu Kawashima and Xin'an Wang and Yinyan Xu and Kenichi Chiba and Hiroko Tanaka and Asahito Hama and Masashi Sanada and Yoshiyuki Takahashi and Hitoshi Kanno and Hiroki Yamaguchi and Shouichi Ohga and Atsushi Manabe and Hideo Harigae and Shinji Kunishima and Eiichi Ishii and Masao Kobayashi and Kenichi Koike and Kenichiro Watanabe and Etsuro Ito and Minoru Takata and Miharu Yabe and Seishi Ogawa and Satoru Miyano and Seiji Kojima},
  journal={Genetics in Medicine},
  year={2017},
  volume={19},
  pages={796-802}
}
Purpose:Precise genetic diagnosis of inherited bone marrow failure syndromes (IBMFS), a heterogeneous group of genetic disorders, is challenging but essential for precise clinical decision making.Methods:We analyzed 121 IBMFS patients using a targeted sequencing covering 184 associated genes and 250 IBMFS patients using whole-exome sequencing (WES).Results:We achieved successful genetic diagnoses for 53 of 121 patients (44%) using targeted sequencing and for 68 of 250 patients (27%) using WES… CONTINUE READING
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